Canonical Allele Identifier: CA119194

Linked Data

ClinVar Variation Id: 8000
ClinVar RCV Id: RCV000008464
dbSNP Id: rs28936692

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.64049207C>G , CM000682.2:g.64049207C>G GRCh38
NC_000020.10:g.62680560C>G , CM000682.1:g.62680560C>G GRCh37
NC_000020.9:g.62151004C>G NCBI36
NG_008095.1:g.5420G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000340356.9:c.310G>C (SOX18) MANE Select ENSP00000341815.7:p.Ala104Pro
ENST00000340356.8:c.310G>C (SOX18) ENSP00000341815.7:p.Ala104Pro
NM_018419.2:c.310G>C (SOX18) NP_060889.1:p.Ala104Pro
XM_011529022.1:c.-2320+6812C>G (TCEA2) XP_011527324.1:n.-2320+6812C>G
XM_011529025.1:c.-2236+6812C>G (TCEA2) XP_011527327.1:n.-2236+6812C>G
XM_024451978.1:c.-2236+6812C>G (TCEA2) XP_024307746.1:n.-2236+6812C>G
NM_018419.3:c.310G>C (SOX18) MANE Select NP_060889.1:p.Ala104Pro